Jacob is a lively 6-year-old boy who enjoys playing his drum set and electronic keyboard, and routinely begs his mom to take him to the donut shop. He also has a rare genetic disorder: Tuberous Sclerosis Complex (TSC). It was diagnosed at Mass General when he was an infant, and will affect him for life.

For Jacob, the lifelong effects of TSC are unknown, but Mass General is here to help him as he grows.

TSC causes benign tumors and cysts to grow on vital organs including the brain, heart, kidneys, lungs and eyes. “When Jacob was diagnosed, he was just a baby,” says his mother, Tatiana. “I noticed white patches on his skin, but he seemed healthy. I couldn’t imagine it was serious.”

A cardiac ultrasound Jacob received at Mass General revealed two tumors in his heart, and an MRI showed benign brain tumors.

Elizabeth Thiele, MD, PhD, took charge of Jacob’s care. She is a renowned physician and scientist, who happens to be one of the world’s foremost experts on TSC. Dr. Thiele established the Carol and James Herscot Center for Children and Adults with Tuberous Sclerosis Complex at Mass General. Gifts to the MGH Fund have helped support the MGH Herscot Center’s ongoing work.

Specialized Continuous Care

“TSC varies from person to person,” says Dr. Thiele. “Given the complexity and the unpredictability of TSC, it is important to be diagnosed early.” In fact, Jacob was so young at the time of his diagnosis that he had yet to develop the most common symptom of TSC – infantile spasms, or seizures.

Thankfully, Dr. Thiele taught Tatiana to watch for the signs of infantile spasms. She first noticed that Jacob was having a spasm when he was 6 months old, and soon he began having them daily. Dr. Thiele prescribed an antiepileptic medication and after a short period of time, the seizures subsided.

“The majority of people with TSC experience seizures,” explains Dr. Thiele. “In the long term, TSC has been shown to result in learning disabilities and behavioral and mental health problems, including depression.” For Jacob, the lifelong effects of TSC are unknown, but Mass General is here to help him as he grows.

Unlocking the Answers to Other Diseases

A portion of donations to the MGH Fund were designated to support the MGH Herscot Center. This is important, because TSC research may hold answers for other diseases, including:

By studying seizures related to TSC, experts can help us learn more about epilepsy.

Since TSC causes tumor growth, researchers want to understand how it might parallel with cancer.

People with TSC are sometimes diagnosed with developmental disorders, including autism.

The MGH Herscot Center is one of the few in the world capable of treating both children and adults with TSC. It provides a wonderful example of the lifelong care and research that is supported by the MGH Fund.

Director, Carol and James Herscot Center for Tuberous Sclerosis Complex

Dr. Elizabeth A. Thiele is a neurologist and epileptologist at Massachusetts General Hospital. She received her medical training at Johns Hopkins University School of Medicine in Baltimore, Md., and completed an internship and residency in pediatrics at the Johns Hopkins Hospital. She completed a second residency in child neurology and a postdoctoral research fellowship in neurology at Children’s Hospital in Boston.Dr. Thiele organized and established the Herscot Center for Tuberous Sclerosis Complex, a multidisciplinary comprehensive clinical program for TSC, as well as a ketogenic diet clinic to treat and manage patients with epilepsy. She is also the director of the Pediatric Epilepsy Service at MGH and an associate professor in Neurology at Harvard Medical School.Dr. Thiele’s research and clinical interests include the role of diet in epilepsy treatment, genotype-phenotype correlation in TSC, the role of epilepsy surgery in management of intractable epilepsy, outcomes following infantile spasms, and neuropsychological profiles in relationship to tuber number and location in TSC

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